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Geleophysic dysplasia
Geleophysic dysplasia
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
GELEOPHYSIC DYSPLASIA
2623
C3489726
MONDO:0000127
ADAMTSL2
Unknown
20301776
Disgenet
,
Orphanet
Defective B3GALTL causes Peters-plus syndrome (PpS)
O-glycosylation of TSR domain-containing proteins
LTBP3
Unknown
27068007
Disgenet
,
GWAS catalog
,
Orphanet
Molecules associated with elastic fibres
All
3
Causal
3
Unknown
2
Select all
Clear
ClinVar
0
Orphanet
2
Disgenet
2
CTD
0
HPO
0
GWAS catalog
1
GenCC
0
ClinGen
0
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Related via 2 shared genes including FBN1, LTBP3.
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Related via 1 shared gene including FBN1.
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1 shared gene
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Related via 1 shared gene including FBN1.
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2 shared genes
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Related via 2 shared genes including FBN1, LTBP3.
Crst syndrome
1 shared gene
FBN1
Related via 1 shared gene including FBN1.
1
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